15 Frequency of mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in a cohort of consecutive patients candidate for assisted reproductive techniques

Rongioletti, Mauro; Papa, Filomena Tiziana; Majolini, M.B.; Vaccarella, Cinzia; Simonelli, Ilaria; Luciano, Alessandra; Pasqualetti, Patrizio; Liumbruno, Giancarlo Maria

doi:10.1016/s1569-1993(12)60184-2

Cited by 2 publications

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“…The authors conclude that screening prenatal/pre-conceptional patients to identify CFTR mutation carriers may reduce the incidence of CF-affected babies at birth, and that the use of preconceptional screening allows carrier couples to choose between prenatal screening and PGD [ 11 ]. On the other hand, two large Italian cohorts found no difference in carrier rates - CFTR mutations were detected in 6.2% of the tested subjects, a percentage similar to that reported in the general population [ 12 ] when carrier screening is performed in the general population. The same studies confirmed the significantly higher prevalence of CFTR-carrier status in couples who required IVF - 1 in every 22 compared with 1 in 32 for couples who did not require IVF [ 13 ].…”

Section: Discussionsupporting

confidence: 56%

Preventable Hazards from in Vitro Fertilization – A Case Series of CF Patients from Bulgaria

Yaneva

Baycheva

Kostova

et al. 2023

Balkan Journal of Medical Genetics

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Pre-implantation genetic diagnosis (PGD) is not often performed when donor gametes are used, due to its high cost. This is with the presumption that the donors are healthy. We report on five cases of babies with confirmed cystic fibrosis (CF), being the result from in vitro fertilization (IVF) with donor (4 cases) or own gametes (one case). There has been no family history for CF in any of the families affected. The clinical presentation in the children ranged from meconium ileus to recurrent respiratory infections and severe nasal polyposis. The age of diagnosis also varied from birth until 9 years. Since one of the presented cases was discovered in a very renowned private IVF clinic, the clinic changed their own protocol, and currently they test every donor for CF carriership. The percentage of CF carriers in the donor population is roughly the same as the one predicted in the general population of Bulgaria – 1/33. Although PGD is costly, the costs for proper care for a CF patient are currently much higher. The more economical option would to screen every donor for CF carriership. IVF requires a lot of physical and psychological stamina. The couples that go through this procedure also require a great deal of hope. It is essential to be more preconscious for possible congenital diseases. We advocate every IVF center to test the donors for CF carriership or to provide PGD for their clients.

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Section: Discussionsupporting

confidence: 56%